ClinVar Miner

Submissions for variant NM_022445.4(TPK1):c.22T>A (p.Leu8Met)

dbSNP: rs763434100
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001348073 SCV001542361 uncertain significance Childhood encephalopathy due to thiamine pyrophosphokinase deficiency 2021-01-14 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with TPK1-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant is present in population databases (rs763434100, ExAC 0.007%). This sequence change replaces leucine with methionine at codon 8 of the TPK1 protein (p.Leu8Met). The leucine residue is weakly conserved and there is a small physicochemical difference between leucine and methionine.

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